Back to catalog
Cortexa research tool·genomics·gnomad
Gnomad Get Sv By Region
Get structural variants (SVs) from gnomAD v4 overlapping a genomic region. Returns DEL/DUP/INV/BND/CPX variants with allele frequencies and consequences. Use for CNV interpretation in specific chromosomal regions. Region should be < 5Mb.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 31 lines · 594 chars
Examples (1)
Default Gnomad Get Sv By Region call
public-safeinput
JSON · 5 lines · 44 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_gnomad_get_sv_by_region
- Tool name
- gnomad_get_sv_by_region
- Added
- 2026-05-01 00:58Z
- Tags
- tooluniverse